1. Function

2. Clinical significance

3. References

4. Further reading

5. External links

Function

AP-2 beta is a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor.^[3]

Clinical significance

Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives.^[3]

References

Further reading

• {{cite journal |vauthors=Tsukada S, Tanaka Y, Maegawa H, etal |title=Intronic polymorphisms within TFAP2B regulate transcriptional activity and affect adipocytokine gene expression in differentiated adipocytes. |journal=Mol. Endocrinol. |volume=20 |issue= 5 |pages= 1104–11 |year= 2006 |pmid= 16373396 |doi= 10.1210/me.2005-0311 }}
• {{cite journal |vauthors=Stelzl U, Worm U, Lalowski M, etal |title=A human protein-protein interaction network: a resource for annotating the proteome. |journal=Cell |volume=122 |issue= 6 |pages= 957–68 |year= 2005 |pmid= 16169070 |doi= 10.1016/j.cell.2005.08.029 }}
• {{cite journal |vauthors=Lindgren CM, Heid IM, Randall JC, etal |title=Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution |journal=PLoS Genet. |volume=5 |issue= 6 |pages= e1000508 |year= 2009 |pmid= 19557161 |doi= 10.1371/journal.pgen.1000508 |pmc=2695778 |editor1-last=Allison |editor1-first=David B. }}
• {{cite journal |vauthors=Nordquist N, Göktürk C, Comasco E, etal |title=The transcription factor TFAP2B is associated with insulin resistance and adiposity in healthy adolescents |journal=Obesity (Silver Spring) |volume=17 |issue= 9 |pages= 1762–7 |year= 2009 |pmid= 19325541 |doi= 10.1038/oby.2009.83 }}
• {{cite journal |vauthors=Prichard ZM, Jorm AF, Mackinnon A, Easteal S |title=Association analysis of 15 polymorphisms within 10 candidate genes for antisocial behavioural traits |journal=Psychiatr. Genet. |volume=17 |issue= 5 |pages= 299–303 |year= 2007 |pmid= 17728669 |doi= 10.1097/YPG.0b013e32816ebc9e }}
• {{cite journal |vauthors=Michelon L, Meira-Lima I, Cordeiro Q, etal |title=Association study of the INPP1, 5HTT, BDNF, AP-2beta and GSK-3beta GENE variants and retrospectively scored response to lithium prophylaxis in bipolar disorder |journal=Neurosci. Lett. |volume=403 |issue= 3 |pages= 288–93 |year= 2006 |pmid= 16787706 |doi= 10.1016/j.neulet.2006.05.001 }}
• {{cite journal |vauthors=Fogu G, Bandiera P, Cambosu F, etal |title=Pure partial trisomy of 6p12.1-p22.1 secondary to a familial 12/6 insertion in two malformed babies |journal=Eur J Med Genet |volume=50 |issue= 2 |pages= 103–11 |year= 2007|pmid= 17185054 |doi= 10.1016/j.ejmg.2006.11.002 }}
• {{cite journal |vauthors=Hensch T, Wargelius HL, Herold U, etal |title=Electrophysiological and behavioral correlates of polymorphisms in the transcription factor AP-2beta coding gene |journal=Neurosci. Lett. |volume=436 |issue= 1 |pages= 67–71 |year= 2008 |pmid= 18358611 |doi= 10.1016/j.neulet.2008.02.062 }}
• {{cite journal |vauthors=Khetyar M, Syrris P, Tinworth L, etal |title=Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus |journal=Genet. Test. |volume=12 |issue= 3 |pages= 457–9 |year= 2008 |pmid= 18752453 |doi= 10.1089/gte.2008.0015 }}
• {{cite journal |vauthors=Kimura K, Wakamatsu A, Suzuki Y, etal |title=Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 |pmc=1356129 }}
• {{cite journal |vauthors=Dagle JM, Lepp NT, Cooper ME, etal |title=Determination of Genetic Predisposition to Patent Ductus Arteriosus in Preterm Infants |journal=Pediatrics |volume=123 |issue= 4 |pages= 1116–23 |year= 2009 |pmid= 19336370 |doi= 10.1542/peds.2008-0313 |pmc=2734952 }}
• {{cite journal |vauthors=Ding X, Fan C, Zhou J, etal |title=GAS41 interacts with transcription factor AP-2beta and stimulates AP-2beta-mediated transactivation |journal=Nucleic Acids Res. |volume=34 |issue= 9 |pages= 2570–8 |year= 2006 |pmid= 16698963 |doi= 10.1093/nar/gkl319 |pmc=3303177}}
• {{cite journal |vauthors=Eckert D, Buhl S, Weber S, etal |title=The AP-2 family of transcription factors |journal=Genome Biol. |volume=6 |issue= 13 |pages= 246 |year= 2005 |pmid= 16420676 |doi= 10.1186/gb-2005-6-13-246 |pmc=1414101 }}
• {{cite journal |vauthors=Fujimori K, Urade Y |title=Cooperative activation of lipocalin-type prostaglandin D synthase gene expression by activator protein-2beta in proximal promoter and upstream stimulatory factor 1 within intron 4 in human brain-derived TE671 cells |journal=Gene |volume=397 |issue= 1–2 |pages= 143–52 |year= 2007 |pmid= 17574780 |doi= 10.1016/j.gene.2007.04.029 }}
• {{cite journal |vauthors=Ebauer M, Wachtel M, Niggli FK, Schäfer BW |title=Comparative expression profiling identifies an in vivo target gene signature with TFAP2B as a mediator of the survival function of PAX3/FKHR |journal=Oncogene |volume=26 |issue= 51 |pages= 7267–81 |year= 2007 |pmid= 17525748 |doi= 10.1038/sj.onc.1210525 }}
• {{cite journal |vauthors=Nilsson KW, Damberg M, Ohrvik J, etal |title=Genes encoding for AP-2beta and the Serotonin Transporter are associated with the Personality Character Spiritual Acceptance |journal=Neurosci. Lett. |volume=411 |issue= 3 |pages= 233–7 |year= 2007 |pmid= 17123722 |doi= 10.1016/j.neulet.2006.10.051 }}
• {{cite journal |vauthors=Ikeda K, Maegawa H, Ugi S, etal |title=Transcription factor activating enhancer-binding protein-2beta. A negative regulator of adiponectin gene expression |journal=J. Biol. Chem. |volume=281 |issue= 42 |pages= 31245–53 |year= 2006 |pmid= 16954217 |doi= 10.1074/jbc.M605132200 }}
• {{cite journal |vauthors=Deng WG, Jayachandran G, Wu G, etal |title=Tumor-specific activation of human telomerase reverses transcriptase promoter activity by activating enhancer-binding protein-2beta in human lung cancer cells |journal=J. Biol. Chem. |volume=282 |issue= 36 |pages= 26460–70 |year= 2007 |pmid= 17630431 |doi= 10.1074/jbc.M610579200 }}
• {{cite journal |vauthors=Nilsson KW, Sjöberg RL, Leppert J, etal |title=Transcription factor AP-2 beta genotype and psychosocial adversity in relation to adolescent depressive symptomatology |journal=J Neural Transm |volume=116 |issue= 3 |pages= 363–70 |year= 2009 |pmid= 19184334 |doi= 10.1007/s00702-009-0183-3 }}
• {{cite journal |vauthors=Maeda S, Tsukada S, Kanazawa A, etal |title=Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus |journal=J. Hum. Genet. |volume=50 |issue= 6 |pages= 283–92 |year= 2005 |pmid= 15940393 |doi= 10.1007/s10038-005-0253-9 }}

External links

• {{MeshName|TFAP2B+protein,+human}}
• [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=char GeneReviews/NCBI/NIH/UW entry on Char Syndrome]

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